Varaico: Literature-Extracted Genetic Variants

Gene:NAA25
Variant:p.K130Q

NAA25

246 papers

RefSeq Summary

This gene encodes the auxiliary subunit of the heteromeric N-terminal acetyltransferase B complex. This complex acetylates methionine residues that are followed by acidic or asparagine residues.[provi...

Pfam Domains

NatB_MDM20aa 263–658UCSCN-acetyltransferase B complex (NatB) non catalytic subunit

Gene Aliases

HGNC Name

N-alpha-acetyltransferase 25, NatB auxiliary subunit

HGNC Previous Symbol

C12orf30

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024953.4
p.K130Q
c.388A>C
Surrounding Variants
1 paper
NM_024953.4
p.A124_R125insFs
c.372_373insC
1 paper
NM_024953.4
p.A124D
c.371C>A
1 paper
NM_024953.4
p.Y123F
c.368A>T
1 paper
NM_024953.4
p.Y115F
c.344A>T
2 papers
NM_024953.4
p.K100*
c.298A>T
1 paper
NM_024953.4
p.V98delFs
c.293_294delAA
1 paper
NM_024953.4
p.E96delFs
c.287delT
1 paper
NM_024953.4
p.P95L
c.284C>T
1 paper
NM_024953.4
p.P95S
c.283C>T
1 paper
NM_024953.4
p.E91A
c.272A>C
1 paper
NM_024953.4
p.Y89H
c.265T>C
1 paper
NM_024953.4
p.A72S
c.214G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."